Learn — Neurological, haematological, oncological & immune

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Site of haematopoiesis (age)

Haematopoiesis is the production of blood cells, and the site at which it happens moves through three phases of life: the yolk sac in the embryo, the liver and spleen in the fetus, and the bone marrow from late fetal life onward. The sequence is examined directly as a fact, and it explains the bedside findings of childhood haematology — why a thalassaemic child develops a huge liver and spleen, and why marrow aspiration in a small child is taken from a different site than in an adult.

Mesoblastic phase: haematopoiesis begins in the blood islands of the yolk sac at about the third week of gestation and is essentially over by about 8 to 10 weeks.
Hepatic phase: the liver takes over from about 6 weeks, with the spleen and lymph nodes contributing, and it is the dominant site through the middle of pregnancy, peaking at about 3 to 6 months of gestation before declining towards term.
Medullary phase: the bone marrow begins producing from about the fifth month of gestation and is the main site from about the seventh month onward and for the whole of postnatal life.
At birth and through early childhood every bone contains red, active marrow, which is why the marrow has almost no reserve capacity in an infant; fatty (yellow) replacement begins in the distal long bones from around 5 to 7 years and progresses centripetally.
In an adult, active red marrow is confined to the axial skeleton — vertebrae, sternum, ribs, skull and pelvis — and the proximal ends of the femur and humerus, which is why the posterior iliac crest is the standard aspiration and biopsy site.
The site for marrow aspiration is age-dependent in practice: the anteromedial surface of the tibia is used in infants under about 12 to 18 months, and the posterior superior iliac spine thereafter, while the sternum is never used in children.
Haemoglobin switching runs alongside the site change: embryonic haemoglobins give way to fetal haemoglobin (HbF, two alpha and two gamma chains), which makes up roughly 70 to 80 percent of haemoglobin at birth and falls to under 2 to 3 percent by about a year as adult HbA (two alpha and two beta chains) takes over. This delay is why beta thalassaemia major and sickle cell disease do not present at birth but at 3 to 6 months.
When the marrow cannot meet demand, the fetal sites reopen: extramedullary haematopoiesis in the liver and spleen produces the hepatosplenomegaly of thalassaemia, while marrow expansion produces frontal bossing, maxillary overgrowth and the hair-on-end skull radiograph.

Haemophilia

Haemophilia is an X-linked recessive deficiency of a clotting factor — factor VIII in haemophilia A and factor IX in haemophilia B (Christmas disease) — so the intrinsic pathway cannot sustain a clot and bleeding continues or restarts after it has apparently stopped. It matters because the bleeding is deep rather than superficial, joint bleeds cripple the child over years, and almost every dangerous complication in the ward comes from an avoidable act such as an intramuscular injection or a dose of aspirin.

Haemophilia A (factor VIII deficiency) accounts for roughly 80 to 85 percent of cases and haemophilia B (factor IX) for most of the rest; both are X-linked recessive, so boys are affected and their mothers are carriers, and there is no father-to-son transmission.
Severity follows the residual factor level: severe is under 1 percent of normal activity with spontaneous bleeding from infancy, moderate is 1 to 5 percent with bleeding after minor injury, and mild is 5 to 40 percent with bleeding only after surgery or significant trauma.
The laboratory pattern is a prolonged activated partial thromboplastin time with a normal prothrombin time, a normal platelet count and a normal bleeding time, corrected by mixing with normal plasma; the diagnosis is confirmed by a specific factor VIII or IX assay, and von Willebrand disease is the differential in which the bleeding time and platelet function are also abnormal.
Haemarthrosis is the signature — most often the knee, then elbow and ankle — and the child reports a tingling or bubbling aura before the joint swells; repeated bleeds into the same joint create a target joint, synovitis and eventually crippling haemophilic arthropathy.
Intracranial haemorrhage is the leading cause of death and may follow trivial or unwitnessed head injury, so any head injury in a haemophiliac is treated by giving factor first and imaging afterwards, never the other way round.
Treatment is factor replacement, given as early as possible in a bleed: as a rule of thumb one unit per kilogram of factor VIII raises the plasma level by about 2 percent, while one unit per kilogram of factor IX raises it by about 1 percent, and factor VIII has the shorter half-life so it is dosed more frequently.
Adjuncts are desmopressin for mild haemophilia A only, which releases stored factor VIII, and tranexamic acid for mucosal and dental bleeding — but tranexamic acid is avoided in haematuria because it can cause obstructing clots in the urinary tract.
The nursing prohibitions are absolute: no intramuscular injections, no aspirin or other non-steroidal anti-inflammatory drugs, no rectal temperatures or suppositories, and no arterial or venous cut-downs without cover; vaccines are given subcutaneously with the finest needle and firm pressure for at least 5 minutes afterwards.
The first aid for a joint or muscle bleed is factor first, then RICE — rest, ice, compression and elevation — with immobilisation only briefly, followed by early physiotherapy so the muscles that protect the joint do not waste.
Inhibitor antibodies against the infused factor develop in a substantial minority of severe haemophilia A patients and are suspected when a previously effective dose stops working; this needs specialist management, not a bigger dose.

Leukaemia in children

Leukaemia is a malignant clonal proliferation of immature white cell precursors in the bone marrow, which crowds out normal haematopoiesis and spills blasts into the blood. It is the commonest childhood cancer, and about three-quarters of childhood cases are acute lymphoblastic leukaemia, which is also one of the most curable — so the nursing task is to recognise it early and then to keep the child alive through the toxicity of treatment.

Acute lymphoblastic leukaemia makes up roughly 75 to 80 percent of childhood leukaemias, with a peak incidence between 2 and 5 years; acute myeloid leukaemia accounts for most of the remainder and is relatively commoner in infants and adolescents.
The presentation is the marrow failure triad plus infiltration: pallor and fatigue from anaemia, fever and infection from neutropenia, bruising, petechiae and bleeding from thrombocytopenia, together with bone and joint pain (a limping child who refuses to walk), lymphadenopathy, hepatosplenomegaly and occasionally testicular or central nervous system involvement.
The white cell count may be high, normal or low, so a normal count never excludes leukaemia; the diagnosis is made on bone marrow aspiration, and the accepted threshold for acute leukaemia is 20 percent or more blasts in the marrow, with immunophenotyping and cytogenetics to classify it.
Bone pain in a child that wakes them at night, a limp with no injury, or a combination of pallor with bruising and lymphadenopathy, should prompt a full blood count with a peripheral smear rather than a course of haematinics.
Prognosis is decided by age, count and biology: age 1 to 9 years, a white cell count under 50,000 per cubic millimetre, hyperdiploidy and the t(12;21) translocation are favourable, while infancy or age over 10, a count over 50,000, T-cell disease, central nervous system or testicular involvement, the Philadelphia t(9;22) translocation and a poor minimal residual disease response are adverse.
Treatment runs in phases over about 2 to 3 years — induction to achieve remission, consolidation and intensification, and a long maintenance phase — with central nervous system prophylaxis by intrathecal methotrexate because ordinary chemotherapy does not cross into the cerebrospinal fluid, and the marrow is the sanctuary site that relapse comes from.
Tumour lysis syndrome occurs as the blast load breaks down in the first days of treatment and is defined by hyperkalaemia, hyperphosphataemia, hyperuricaemia and a consequent hypocalcaemia, with acute kidney injury; prevention is vigorous hydration, allopurinol or rasburicase, strict intake-output and electrolyte monitoring, and the deliberate omission of potassium from the intravenous fluids.
Febrile neutropenia during treatment is a medical emergency: cultures are taken and broad-spectrum intravenous antibiotics are started within an hour, no rectal thermometer, suppository or rectal examination is used, and the child is protected by strict hand hygiene rather than by mask alone.
Long-term survival in acute lymphoblastic leukaemia is high with modern protocols in centres that can deliver them, and the nursing contribution to that figure is adherence, infection control, mouth care, nutrition and the family support that keeps a child on a three-year regimen.

Sequestration crisis

Acute splenic sequestration crisis is the sudden pooling of a large volume of blood inside the spleen of a child with sickle cell disease, so the spleen enlarges rapidly while the circulating haemoglobin falls and the child goes into hypovolaemic shock. It is one of the two great causes of sudden death in young children with sickle cell disease, along with overwhelming pneumococcal sepsis, and it can kill within hours if the parent has not been taught to feel for the spleen.

It occurs mainly between about 6 months and 5 years in homozygous sickle cell disease, before the spleen has fibrosed away into an autosplenectomy, and can occur later in children with HbSC disease or sickle beta thalassaemia whose spleens persist.
The definition is a sudden enlargement of the spleen with a fall in haemoglobin of at least 2 g/dL below the child's steady-state value, and it is accompanied by a rising reticulocyte count and often a falling platelet count as the platelets are trapped too.
The child presents with sudden pallor, listlessness, a distended tender abdomen with a rapidly enlarging spleen, breathlessness, tachycardia, a weak thready pulse and, if not treated, hypovolaemic shock.
Distinguish it from an aplastic crisis, in which the haemoglobin also falls but the reticulocyte count is LOW and the spleen is not enlarging, and which is typically triggered by parvovirus B19; and from a vaso-occlusive painful crisis, in which the haemoglobin is near baseline.
Emergency treatment is restoration of the circulating volume with intravenous crystalloid, followed by cautious transfusion of packed red cells in small aliquots — of the order of 5 mL/kg — because the sequestered red cells are released back into the circulation as the spleen shrinks, and a full transfusion on top of that produces dangerous hyperviscosity and a rebound overshoot in haemoglobin.
Recurrence is common, so after a first episode the child is followed on a chronic transfusion programme or offered splenectomy, and every parent is taught to palpate the spleen daily and to bring the child in at once if it grows.
These children are functionally asplenic even before the spleen shrinks, so they need pneumococcal and meningococcal vaccination, Haemophilus influenzae type b vaccination, penicillin prophylaxis in early childhood, and any fever must be treated as possible overwhelming sepsis.
Sickle cell disease in India is concentrated in the tribal belts of central and western states and is screened and managed under the national sickle cell programme, with a solubility or point-of-care screening test confirmed by high performance liquid chromatography.

Thalassaemia major

Beta thalassaemia major is a severe inherited anaemia in which both beta-globin genes are defective, so almost no adult haemoglobin is made, the excess alpha chains precipitate and destroy red cell precursors, and the child depends on lifelong transfusion. It presents at 3 to 6 months of age as fetal haemoglobin falls away, and it matters as much for the iron overload that transfusion causes as for the anaemia itself.

Inheritance is autosomal recessive; two carrier parents have a one in four chance of an affected child in every pregnancy, and carrier detection rests on a raised HbA2 above about 3.5 percent with a microcytic picture and a normal or high red cell count.
Presentation is at about 3 to 6 months, not at birth, because fetal haemoglobin protects the baby until the switch to adult haemoglobin is complete: progressive pallor, failure to thrive, poor feeding, hepatosplenomegaly and irritability.
The untransfused child develops the classic bony changes of marrow expansion — frontal bossing, prominent maxillae with malocclusion and the chipmunk facies, and a hair-on-end appearance of the skull on radiograph — along with extramedullary haematopoiesis producing a massive liver and spleen.
The blood picture is a severe microcytic hypochromic anaemia with a raised red cell distribution width, target cells, nucleated red cells and basophilic stippling on the smear; high performance liquid chromatography shows a markedly raised HbF with absent or greatly reduced HbA, which is the diagnostic test.
The transfusion regimen aims to keep the pre-transfusion haemoglobin around 9 to 10.5 g/dL, using leucodepleted packed red cells roughly every 2 to 4 weeks, because holding the haemoglobin at that level suppresses the ineffective marrow and prevents the bony deformities and splenomegaly.
Each unit of blood carries roughly 200 mg of iron that the body has no way of excreting, so iron overload is inevitable; serum ferritin, and where available T2-star magnetic resonance imaging of the heart and liver, are used to monitor it.
Chelation is started after the child has had about 10 to 20 transfusions or when the serum ferritin is persistently above about 1000 nanograms per millilitre, usually after the age of 2 to 3 years. The oral agents are deferasirox once daily and deferiprone in three divided doses, and the parenteral agent is desferrioxamine given as a slow subcutaneous infusion over 8 to 12 hours on most nights of the week.
Each chelator has its own monitoring: deferiprone can cause agranulocytosis, so the neutrophil count is checked regularly and the drug is stopped for fever until the count is known; deferasirox needs renal and liver function monitoring; desferrioxamine needs hearing and vision checks and causes local site reactions.
Iron deposition in the heart, causing cardiomyopathy and arrhythmia, is the leading cause of death, followed by endocrine failure — diabetes, hypothyroidism, hypoparathyroidism, short stature and delayed puberty — and hepatic disease, so adherence to chelation is the single most important thing a family does.
Haematopoietic stem cell transplantation from a matched sibling donor is the only cure, and it works best when done early before iron damage accumulates; prevention is by carrier screening of couples, genetic counselling and prenatal diagnosis, which is the strategy the national programme relies on.

Aplastic anaemia

Aplastic anaemia is pancytopenia caused by failure of the bone marrow itself, with a hypocellular marrow that contains no malignant infiltrate and no fibrosis — the factory is empty rather than occupied. It matters because the child presents with the same pallor, fever and bruising as leukaemia but with no organomegaly and no blasts, and because the deaths come from infection and bleeding while the diagnosis is being worked up.

The marrow is hypocellular, generally under 25 percent cellularity, and the peripheral blood shows anaemia, neutropenia and thrombocytopenia together with a low reticulocyte count, which is the finding that separates marrow failure from destruction or loss.
Severe aplastic anaemia is defined by marrow cellularity under 25 percent together with at least two of three: neutrophil count under 500 per cubic millimetre, platelet count under 20,000 per cubic millimetre, and a reticulocyte count under about 20,000 per microlitre; very severe disease has a neutrophil count under 200.
Most cases are idiopathic and immune-mediated; identifiable causes are drugs (chloramphenicol is the classic, along with carbamazepine, phenytoin, sulphonamides, gold and antithyroid drugs), chemicals such as benzene and insecticides, ionising radiation, and viruses, particularly seronegative hepatitis and Epstein-Barr virus.
Inherited causes must be excluded in a child: Fanconi anaemia presents with short stature, café-au-lait patches, thumb and radial anomalies, microcephaly and renal anomalies, and is confirmed by a chromosomal breakage test; dyskeratosis congenita presents with nail dystrophy, oral leucoplakia and reticulate skin pigmentation.
The clinical picture is the marrow failure triad without infiltration: pallor and fatigue, fever and mouth ulcers from neutropenia, and petechiae, gum bleeding and epistaxis from thrombocytopenia — with NO significant lymphadenopathy, hepatomegaly or splenomegaly, which is the discriminator from leukaemia.
Parvovirus B19 causes pure red cell aplasia, not aplastic anaemia — it knocks out only the red cell line, and it produces the aplastic crisis of chronic haemolytic states; that distinction is asked repeatedly.
Definitive treatment for severe disease in a child is haematopoietic stem cell transplantation from a matched sibling donor, and where no donor exists, immunosuppressive therapy with antithymocyte globulin and ciclosporin; growth factors and, in some protocols, a thrombopoietin receptor agonist are added.
Supportive care is where nursing decides the outcome: irradiated and leucodepleted blood products, avoidance of transfusion from family members in a potential transplant candidate, platelet transfusion for bleeding or a very low count, strict hand hygiene and protective isolation, meticulous mouth and perineal care, no intramuscular injections, no aspirin or non-steroidal drugs, and no rectal thermometers, suppositories or examinations.
Any fever in a neutropenic child is a medical emergency requiring cultures and broad-spectrum intravenous antibiotics within the hour, since infection, not anaemia, is what kills these children.

Causes of neutropenia

Neutropenia is an absolute neutrophil count below 1500 per cubic millimetre, calculated as the total white cell count multiplied by the percentage of neutrophils and bands divided by 100. It matters because the neutrophil is the cell that contains bacteria and fungi, so the depth of the count predicts the risk, and below 500 per cubic millimetre a fever must be treated as an emergency before any organism is identified.

Grade by the absolute neutrophil count: mild 1000 to 1500, moderate 500 to 1000 and severe under 500 per cubic millimetre; the risk of serious bacterial and fungal infection rises steeply below 500 and further below 200.
Acquired causes are much the commonest: viral suppression (the usual cause in an otherwise well child, transient and self-limiting), chemotherapy with a nadir typically a week to a fortnight after the cycle, radiation, drugs (chloramphenicol, carbamazepine, phenytoin, sulphonamides, antithyroid drugs, phenothiazines), severe sepsis exhausting the marrow, hypersplenism, and vitamin B12 or folate deficiency.
Congenital and immune causes are the ones to think of in a young child with recurrent infections: severe congenital neutropenia (Kostmann syndrome), cyclic neutropenia in which the count falls in a recurring cycle of roughly three weeks, Shwachman-Diamond syndrome with pancreatic insufficiency and short stature, and autoimmune neutropenia of infancy, which is common and usually benign.
Marrow infiltration or failure — leukaemia, lymphoma, neuroblastoma, aplastic anaemia — is suspected when the neutropenia comes with anaemia and thrombocytopenia rather than alone.
The clinical clue that the count is low is the absence of pus: a neutropenic child with a serious infection may have no consolidation on the film, no abscess and no purulent discharge, because it is the neutrophil that makes pus, so fever alone is the sign.
Febrile neutropenia is defined as a single oral temperature of 38.3 degrees Celsius or more, or 38.0 degrees Celsius sustained for an hour, in a child whose neutrophil count is under 500 per cubic millimetre or expected to fall below it.
The management rule is cultures then antibiotics within 60 minutes: blood cultures from each lumen of the central line and from a peripheral site, urine and any focal site, then an empirical antipseudomonal beta-lactam such as piperacillin-tazobactam, cefepime or a carbapenem, escalated according to the unit's protocol and local sensitivities.
Nursing measures are strict hand hygiene as the single most effective step, a single room with protective precautions, meticulous oral and perineal care, no rectal thermometers, suppositories or rectal examinations, no intramuscular injections, avoidance of raw and unwashed foods, and daily inspection of the mouth, perineum, skin folds and every line site.

Meningitis — paediatric

Meningitis is inflammation of the meninges and the cerebrospinal fluid in the subarachnoid space, most dangerously by bacteria, and it is diagnosed by lumbar puncture and cerebrospinal fluid examination. It matters because the presentation in an infant is non-specific — fever, poor feeding, lethargy and a bulging fontanelle rather than neck stiffness — and because every hour of delay in the first antibiotic dose costs survival and hearing.

The organisms follow age. Under 3 months: group B Streptococcus, Escherichia coli and other gram-negative bacilli such as Klebsiella, and Listeria monocytogenes. From 3 months to 5 years and beyond: Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b, which has fallen sharply since Hib conjugate vaccine entered the national schedule in the pentavalent vaccine.
Classic signs — neck stiffness, Kernig sign and Brudzinski sign — are unreliable under about 18 months; in an infant look instead for fever or hypothermia, refusal of feeds, vomiting, high-pitched cry, irritability alternating with lethargy, a bulging anterior fontanelle and seizures.
The cerebrospinal fluid pattern in bacterial meningitis is turbid fluid with a high polymorph count, protein raised well above normal, glucose low at less than about 40 percent of a simultaneous blood glucose, and raised opening pressure; viral meningitis shows a lymphocytic pleocytosis with normal glucose and mildly raised protein; tuberculous meningitis shows lymphocytes with a very high protein, low glucose and a cobweb coagulum on standing.
Lumbar puncture is deferred, but antibiotics are NOT, when there are signs of raised intracranial pressure or focal neurological deficits, a markedly reduced conscious level, cardiorespiratory instability, coagulopathy or infection over the puncture site; blood cultures are taken and treatment started, with the puncture done once it is safe.
Empirical antibiotics by age: a neonate receives ampicillin with an aminoglycoside or cefotaxime, and ceftriaxone is avoided in the newborn because of bilirubin displacement and calcium precipitation; beyond 3 months the standard is ceftriaxone about 100 mg/kg/day, with vancomycin added where resistant pneumococcus is a concern.
Duration is by organism, not by how well the child looks: broadly about 7 days for meningococcus, 7 to 10 days for Haemophilus influenzae type b, 10 to 14 days for pneumococcus and 14 to 21 days or more for group B streptococcal and gram-negative neonatal meningitis.
Dexamethasone 0.15 mg/kg every 6 hours for 2 to 4 days, given with or just before the first antibiotic dose, reduces hearing loss in Haemophilus influenzae type b meningitis in children beyond the neonatal period; giving it after the antibiotic has already been running is of no proven value.
Meningococcal disease needs droplet precautions for the first 24 hours of effective therapy, notification, and chemoprophylaxis of close contacts with rifampicin twice daily for 2 days, or a single dose of ceftriaxone, or ciprofloxacin for adults; the purpuric non-blanching rash of meningococcaemia is the sign that turns this into a minute-by-minute emergency.
Complications to nurse and screen for are the syndrome of inappropriate antidiuretic hormone secretion with hyponatraemia, subdural effusion, hydrocephalus, seizures, cerebral abscess and, most commonly of all, sensorineural hearing loss — which is why every child has a formal hearing assessment before or soon after discharge.
Prevention is by immunisation on the national schedule: Hib within the pentavalent vaccine and pneumococcal conjugate vaccine, both given in infancy with a booster, plus meningococcal vaccine for outbreaks, contacts and travellers.

Spina bifida occulta

Spina bifida occulta is failure of fusion of the posterior vertebral arch, usually at L5 or S1, with no herniation of meninges or neural tissue and with intact skin over the defect. It is the commonest and mildest neural tube defect, and most people who have it never know; it matters because a minority hide an underlying tethered cord, dermal sinus or lipoma that will damage bladder, bowel and gait if it is not found before the child grows.

Occulta means hidden: the vertebral arch is open but the cord and meninges stay inside the canal and the skin is closed, so there is no sac and usually no neurological deficit at birth.
The cutaneous markers over the lumbosacral midline are the whole examination: a tuft of hair, a deep or draining dimple, a lipoma or fatty lump, a capillary haemangioma, a skin tag, a dermal sinus opening or a deviated gluteal cleft.
A simple sacrococcygeal dimple that is under 5 mm across, lies within 2.5 cm of the anal verge, sits in the midline gluteal crease and has no other marker is benign and needs no imaging; a dimple higher than that, deeper than that, draining, or accompanied by any second marker does.
Ultrasound of the spine is the screening test in the first three months of life while the posterior elements are still cartilaginous; after that, and whenever the ultrasound is abnormal or symptoms appear, MRI of the whole spine is the investigation.
Tethered cord syndrome is the complication to look for: the conus medullaris lies below the L2 to L3 level after about 3 months of age and is stretched as the spine grows, producing back and leg pain, deteriorating gait, a unilaterally small or cavus foot, scoliosis, and new incontinence in a child who was previously dry.
A dermal sinus tract is a direct channel from the skin to the thecal sac and is a route for recurrent bacterial meningitis and intraspinal abscess; it is never probed, never expressed and never left unimaged.
The three lesions must not be confused: occulta has no sac and no deficit; meningocele has a sac of meninges and cerebrospinal fluid with the cord in place and usually a normal neurological examination; myelomeningocele has neural tissue in the sac, motor and sensory loss below the level, a neurogenic bladder, and Chiari II malformation with hydrocephalus in most cases.
Prevention is the same as for every neural tube defect: folic acid 400 micrograms daily from at least one month before conception through the first trimester, and 4 mg daily for a woman who has had a previously affected pregnancy.

Hydrocephalus

Hydrocephalus is accumulation of cerebrospinal fluid under pressure within the ventricular system, from obstruction to its flow, failure of its absorption or, rarely, overproduction, causing ventricular dilatation and raised intracranial pressure. In an infant the open sutures let the head enlarge and hide the pressure for weeks, so the diagnosis is made on a tape measure and a growth chart; once the sutures fuse, the same disease presents as headache, vomiting and papilloedema and can kill by herniation.

Non-communicating or obstructive hydrocephalus blocks flow within the ventricular system: aqueductal stenosis is the commonest congenital cause, followed by Dandy-Walker malformation, Chiari II malformation with myelomeningocele, and posterior fossa tumours in the older child.
Communicating hydrocephalus blocks absorption after the fluid has left the fourth ventricle: post-meningitic (tuberculous meningitis is a leading cause in India), post-haemorrhagic after intraventricular haemorrhage of prematurity, and after subarachnoid haemorrhage.
Head circumference is the screening tool: a term newborn measures about 33 to 35 cm and grows about 2 cm a month for the first 3 months, 1 cm a month from 4 to 6 months and 0.5 cm a month from 7 to 12 months, reaching about 47 cm at one year. Any measurement crossing centile lines upwards on the WHO chart is hydrocephalus until proved otherwise.
Infant signs: a tense, bulging, non-pulsatile anterior fontanelle, separated sutures, dilated scalp veins, frontal bossing, the setting-sun sign of forced downgaze from tectal compression, a cracked-pot note on percussion (Macewen sign), a shrill high-pitched cry, irritability, poor feeding and vomiting.
Older child with fused sutures: headache that is worst on waking and on lying flat, vomiting that relieves the headache, papilloedema, diplopia from a false-localising sixth nerve palsy, deteriorating school performance and gait change.
The Cushing triad of hypertension with a widening pulse pressure, bradycardia and irregular breathing is a LATE and pre-terminal sign of herniation, not an early warning; the nurse acts on the irritability and the vomiting long before the vital signs change.
Cranial ultrasound through the anterior fontanelle is the bedside investigation in the infant and needs no sedation; CT or MRI is used once the fontanelle closes and to define the cause. Lumbar puncture is contraindicated in obstructive hydrocephalus with raised pressure because it can cone the brainstem.
Treatment is a ventriculoperitoneal shunt, or endoscopic third ventriculostomy where the obstruction is at or below the aqueduct in a child old enough for it; obstruction is the commonest shunt complication and infection the most dangerous, most infections appearing within the first one to two months of surgery and most often caused by coagulase-negative staphylococci seeded at operation.
After shunt surgery the child is nursed flat or with only slight elevation as prescribed and NOT on the operated side, because rapid decompression tears bridging veins and causes subdural haemorrhage; head circumference, fontanelle tension, pupils, level of consciousness and the shunt tract are checked and charted each shift.

Types of seizures — features and management

A seizure is the transient appearance of signs or symptoms caused by abnormal excessive or synchronous neuronal discharge in the brain, and epilepsy is the disease of recurrent unprovoked seizures. The 2017 International League Against Epilepsy classification asks three questions in order: is the onset focal, generalised or unknown; is the seizure motor or non-motor; and, for a focal seizure, is awareness retained or impaired. Getting the type right decides the drug, because the wrong drug makes some childhood seizures worse.

Generalised types: tonic-clonic (stiffening then jerking, tongue bite, incontinence, post-ictal drowsiness), absence (sudden blank stare of 5 to 20 seconds with no aura, no fall and NO post-ictal phase, dozens of times a day, provoked by 3 minutes of hyperventilation, 3 Hz generalised spike-and-wave on EEG), myoclonic, atonic drop attacks and tonic seizures.
Focal types: focal aware (the old simple partial, awareness preserved), focal with impaired awareness (the old complex partial, with automatisms such as lip smacking and fumbling and a post-ictal confusion), and focal evolving to bilateral tonic-clonic (the old secondary generalisation).
A febrile seizure is a seizure with fever in a child aged 6 months to 5 years without central nervous system infection or a metabolic cause and without a previous afebrile seizure. Simple means generalised, under 15 minutes, once in 24 hours with full recovery; complex means focal, longer than 15 minutes, or repeated within 24 hours.
About a third of children with one febrile seizure have another, and the risk of later epilepsy after a SIMPLE febrile seizure is barely above the background population risk; a simple febrile seizure needs neither EEG nor neuroimaging nor long-term antiepileptic drugs, only a search for the source of the fever. Lumbar puncture is considered in the infant under 12 months, in any child with meningeal signs or a prolonged post-ictal state, and in a child already on antibiotics.
Infantile spasms (West syndrome) present between 3 and 12 months as clusters of sudden flexor or extensor spasms on waking, with developmental regression and hypsarrhythmia on the EEG; treatment is ACTH or oral steroids, with vigabatrin first when the cause is tuberous sclerosis.
Neonatal seizures are most often SUBTLE rather than convulsive - lip smacking, cycling or boxing movements, tonic eye deviation, apnoea - and the commonest cause is hypoxic-ischaemic encephalopathy; check blood glucose, calcium and sodium before anything else, and phenobarbitone 20 mg/kg intravenously is the first-line drug.
Status epilepticus is now defined operationally as a seizure lasting 5 minutes or more, or repeated seizures without recovery of consciousness between them, because that is the point at which it will not stop on its own. First line is a benzodiazepine: intravenous lorazepam 0.1 mg/kg to a maximum of 4 mg, repeated once after 5 minutes; with no intravenous access give buccal or intranasal midazolam 0.2 mg/kg (maximum 10 mg) or rectal diazepam 0.5 mg/kg (maximum 10 mg).
Second line, after two doses of benzodiazepine, is intravenous levetiracetam, fosphenytoin or sodium valproate; the large randomised trials found them equally effective, so the choice depends on the child. Third line is rapid sequence induction and a midazolam or thiopentone infusion in intensive care.
Drug traps: carbamazepine, phenytoin, gabapentin and vigabatrin can worsen absence and myoclonic seizures, so absence is treated with ethosuximide or valproate; sodium valproate is avoided in girls and women of childbearing potential because of neural tube defects and neurodevelopmental harm; carbamazepine or oxcarbazepine suits focal seizures and levetiracetam is broad-spectrum.
During a seizure: do not restrain the child, do not put anything in the mouth, turn her onto her side, protect the head, loosen tight clothing, give oxygen, time the seizure by the clock and describe exactly what moved first, because the description is what classifies the seizure.

Cerebral palsy

Cerebral palsy is a group of permanent disorders of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances occurring in the developing fetal or infant brain. The lesion is static but the clinical picture is not: as the child grows, tone, contractures, hips and function all change, which is why cerebral palsy needs lifelong surveillance rather than a single diagnosis, and it is the commonest cause of physical disability in childhood, affecting about 2 to 3 per 1000 live births.

Physiological types: spastic in about 70 to 80% (hemiplegic, diplegic or quadriplegic), dyskinetic or athetoid from basal ganglia damage, ataxic from cerebellar damage, and mixed. The pattern points to the cause - spastic diplegia to periventricular leukomalacia in a preterm, athetoid cerebral palsy to kernicterus, and spastic quadriplegia to severe term hypoxic-ischaemic encephalopathy.
Causes are mostly antenatal, not intrapartum: congenital infection, brain malformation, fetal stroke and placental disease. Prematurity and very low birth weight are the strongest single risk factors; birth asphyxia accounts for only a minority of cases, and kernicterus, neonatal hypoglycaemia, meningitis and head injury make up the rest.
The early signs that bring a baby to attention before the label is applied: delayed motor milestones, abnormal tone (floppy first, then stiff), persistent fisting beyond 3 months, scissoring of the legs, feeding and swallowing difficulty, excessive irritability, and primitive reflexes that outstay their welcome - a Moro after 6 months or an asymmetric tonic neck reflex after 6 to 7 months.
Hand preference before 12 months of age is abnormal and means hemiplegia until proved otherwise, because a normal infant uses both hands until well into the second year.
Function is graded by the Gross Motor Function Classification System from level I, walking without limitation, to level V, transported in a wheelchair with no head or trunk control; the level predicts what equipment, surgery and support the child will need and is more useful in planning than the anatomical label.
Diagnosis is clinical. MRI identifies the lesion and excludes treatable and progressive causes, but the single rule that matters is that cerebral palsy does not progress: a child who LOSES skills she once had does not have cerebral palsy and must be investigated for a metabolic or neurodegenerative disease.
Associated problems are the ones that shorten life and must be screened for at every review: epilepsy in roughly a third to a half, intellectual disability, visual impairment and squint, hearing loss, dysphagia with silent aspiration, gastro-oesophageal reflux, drooling, constipation, undernutrition and failure to thrive, hip displacement (which needs radiological hip surveillance in the non-walking child), scoliosis, contractures, osteopenia with fractures, communication difficulty and pain.
Management is multidisciplinary and lifelong: physiotherapy for range and strength, occupational therapy for function and seating, speech and language therapy for communication and safe swallowing, ankle-foot orthoses, and spasticity treatment with oral baclofen or tizanidine, botulinum toxin A injected into the targeted muscles with an effect lasting about 3 to 6 months, intrathecal baclofen, or selective dorsal rhizotomy for a selected child with spastic diplegia.
Nutrition is treatment, not comfort: an undernourished child with cerebral palsy has worse tone, worse healing and more chest infections, and a child with an unsafe swallow needs thickened feeds, a modified position or a gastrostomy rather than repeated aspiration.
In India, Rashtriya Bal Swasthya Karyakram screens for developmental delay and disability and refers children to District Early Intervention Centres for free therapy, aids and appliances - the referral is part of the nursing plan, not an optional extra.

Brain tumour in children

Brain and other central nervous system tumours are the commonest solid tumours of childhood and the second commonest childhood malignancy after leukaemia, and they cause more cancer deaths in children than any other group. Between about 1 and 10 years of age most are infratentorial, arising in the posterior fossa, which is why the classic childhood presentation is morning headache with vomiting and an unsteady walk rather than the seizures and focal weakness that dominate adult practice.

Pilocytic astrocytoma is the commonest childhood brain tumour overall, is low grade, typically cerebellar with a cyst and a mural nodule, and is often cured by complete surgical removal alone.
Medulloblastoma is the commonest MALIGNANT childhood brain tumour, arises from the cerebellar vermis and roof of the fourth ventricle, and seeds through the cerebrospinal fluid - so staging needs MRI of the whole neuraxis and cerebrospinal fluid cytology, and treatment adds craniospinal radiotherapy and chemotherapy to surgery.
Ependymoma arises from the floor of the fourth ventricle and creeps out through its foramina, so complete resection is difficult and recurrence is local. Brainstem glioma, typically diffuse intrinsic pontine glioma, gives the triad of cranial nerve palsies, long tract signs and ataxia, is usually diagnosed on MRI without biopsy, and radiotherapy is palliative only.
Craniopharyngioma is suprasellar, calcified and cystic, and presents with visual field loss (classically bitemporal hemianopia), growth failure, delayed puberty and diabetes insipidus rather than with raised pressure.
The presentation is raised intracranial pressure: headache that is worst on waking or on lying flat, vomiting that relieves it, papilloedema, and a sixth nerve palsy that falsely suggests a lateral lesion. Posterior fossa tumours add ataxia, nystagmus, a persistent head tilt and clumsiness; supratentorial tumours add seizures, hemiparesis and personality change; and in an infant with open sutures the only signs may be a rising head circumference, a bulging fontanelle, setting-sun eyes and developmental regression.
MRI with gadolinium is the investigation of choice. Lumbar puncture is CONTRAINDICATED until imaging has excluded raised pressure and a posterior fossa mass, because withdrawing fluid below an obstruction cones the brainstem.
Treatment combines maximal safe surgical resection, chemotherapy and radiotherapy; radiotherapy is avoided under 3 years of age because of the neurocognitive damage it causes to the developing brain, and chemotherapy is used to delay it. Dexamethasone reduces peritumoural oedema quickly, and a shunt or endoscopic third ventriculostomy relieves obstructive hydrocephalus.
Survivorship is a nursing job in itself: growth hormone deficiency and other endocrine failure after cranial irradiation, learning difficulty, posterior fossa syndrome with cerebellar mutism in the days after resection, cisplatin-related hearing loss, infertility and second malignancies all need long-term follow-up.

Juvenile SLE

Juvenile systemic lupus erythematosus is a multisystem autoimmune disease in which antibodies to nuclear antigens form immune complexes that deposit in skin, joints, kidney, blood vessels and brain, with onset before 18 years of age; roughly a sixth to a fifth of all lupus begins in childhood. Childhood-onset disease behaves worse than adult disease - renal and neuropsychiatric involvement are commoner, damage accumulates faster, and the child accumulates decades of exposure to both the disease and its treatment - so it is treated more aggressively from the start.

It affects girls far more than boys, and the ratio widens after puberty; the peak age at onset is early adolescence, which is exactly the age at which adherence to treatment is hardest.
Mucocutaneous features: the malar butterfly rash that spares the nasolabial folds, photosensitivity, discoid lesions that scar, PAINLESS oral and nasal ulcers (painless is the discriminator from aphthous ulcers and Behcet disease), non-scarring alopecia, Raynaud phenomenon and vasculitic lesions of the digits.
Systemic features: fever, fatigue and weight loss; a non-erosive, deforming but reducible arthritis; serositis with pleuritis or pericarditis; nephritis; seizures, psychosis, chorea or acute confusion; and cytopenias, classically a Coombs-positive haemolytic anaemia with leukopenia, lymphopenia and thrombocytopenia.
Antibodies: antinuclear antibody is the screening test, positive in over 95%, so a negative test makes lupus very unlikely but a positive test alone proves nothing; anti-double-stranded DNA is specific and tracks disease activity and nephritis; anti-Smith is the most specific antibody but is present in a minority; anti-Ro and anti-La cross the placenta and cause neonatal lupus with congenital complete heart block.
Antiphospholipid antibodies - lupus anticoagulant, anticardiolipin and anti-beta-2-glycoprotein I - cause arterial and venous thrombosis, and produce the paradox of a PROLONGED activated partial thromboplastin time in a child who clots rather than bleeds, along with a biologically false positive VDRL.
Activity monitoring: C3 and C4 FALL and anti-double-stranded DNA rises in a flare. The erythrocyte sedimentation rate is high in active disease while the C-reactive protein is characteristically normal or only mildly raised, so a high C-reactive protein in a lupus patient points to INFECTION rather than to a flare.
Lupus nephritis develops in about half to three-quarters of children, far more often than in adults, and is classified on renal biopsy from class I to class VI; class IV diffuse proliferative nephritis is the commonest and the most damaging. Every clinic visit therefore includes blood pressure, urine dipstick, urine protein-creatinine ratio, microscopy for red cell casts and serum creatinine.
Treatment: hydroxychloroquine for every patient because it reduces flares, thrombosis and organ damage (with annual retinal screening), corticosteroids for induction, mycophenolate mofetil or cyclophosphamide for proliferative nephritis and severe organ disease, azathioprine or mycophenolate for maintenance, and rituximab or belimumab for refractory disease, with an angiotensin-converting enzyme inhibitor for proteinuria.
Nursing and self-management: daily sun protection with a broad-spectrum sunscreen, hat and long sleeves because ultraviolet light triggers both rash and systemic flares; calcium and vitamin D and weight-bearing exercise against steroid osteoporosis; inactivated vaccines kept up to date but LIVE vaccines avoided while significantly immunosuppressed; contraception and pregnancy counselling, avoiding oestrogen-containing pills if antiphospholipid antibodies are present; and adherence support through adolescence.
Drug-induced lupus is a separate entity - hydralazine, procainamide, isoniazid, minocycline and some anticonvulsants - with anti-histone antibodies, sparing of kidney and brain, and resolution when the drug is stopped.

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